Mutation deep within an intron of MSH2 causes Lynch syndrome.

ABSTRACT: Lynch syndrome, a heritable form of cancer predisposition, is caused by germline mutations within genes of the DNA mismatch repair family, and can be rapidly identified in young onset cancer patients through the detection of loss of expression of at least one of these genes in tumour samples. To date, such causative mutations have only been identified within exonic and splice site regions. Though this approach has been successful in the majority of families, a considerable number remain in which no mutation has been found. To address this situation, we used an alternative mutation discovery procedure which involved haplotype analysis of the locus containing the gene lost in the tumour and delineation of segregating haplotypes, followed by an investigation of splicing aberrations to uncover

SUBMITTER: Clendenning M 

PROVIDER: S-EPMC4580736 | biostudies-literature | 2011 Jun

REPOSITORIES: biostudies-literature